An unusual cause of deranged liver function tests: From paracetamol to Pompe’s

Abstract

AMD (glycogen storage disease type 2) or Pompe’s disease is an autosomal recessive disorder with an estimated incidence of approximately 1:40,000 [1,2]. There is a deficiency of the enzyme α1,4 glucosidase which breaks down glycogen in cell lysosomes. Glycogen accumulates within lysosomes and disrupts cellular function. This affects skeletal muscle including the diaphragm. The presentation is usually insidious with gradually increasing peripheral muscle weakness or respiratory failure. Prognosis is highly variable and depends on the gene mutation and enzyme activity. As no cure is available, supportive therapies such as noninvasive ventilation and genetic screening of family members are the cornerstones of management. However, enzyme replacement therapies have been developed and the results of initial studies are promising [3,4].